MTMRC Rabbit Polyclonal Antibody, 50ul Polyclonal Antibodies Mutations in this gene are

Mutations in this gene are a cause of spastic ataxia 2| autosomal recessive

This gene is expressed in the thymus and in several epithelial structures early in embryogenesis

Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly

Metalloproteinase inhibitor 1 encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs)

MTMRC Rabbit Polyclonal Antibody, 50ul Polyclonal Antibodies Mutations in this gene arePhosphatidylinositide 3 kinase derived membrane anchored phosphatidylinositides such as phosphatidylinositol 3 phosphate (PtdIns(3)P) regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3 phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.